DRAGEN Bio-IT Platform Enabling the Global Genomic Infrastructure

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1 TM DRAGEN Bio-IT Platform Enabling the Global Genomic Infrastructure About DRAGEN Edico Genome s DRAGEN TM (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of next-generation sequencing (NGS) data. DRAGEN uses highly reconfigurable field-programmable gate array (FPGA) to provide hardware-accelerated implementations of genome pipeline algorithms, such as BCL conversion, compression, mapping, alignment, sorting, duplicate marking, and haplotype variant calling. The highly flexible DRAGEN platform allows Edico Genome to develop custom algorithms and refine and improve existing pipelines. Industry Leading Speeds Whole human genome sequence analysis at 30x coverage in ~20 minutes Highly Accurate Clinical-grade sensitivity and specificity for all major genomic applications and workflows Cost Savings One DRAGEN instance replaces ~ 80 traditional compute instances and reduces storage costs Onsite and Cloud DRAGEN can be utilized onsite, in the cloud, or through a hybrid cloud solution

2 Unleash the Power of DRAGEN Edico Genome s DRAGEN Bio-IT Platform leverages FPGA technology to provide customers with hardware-accelerated implementation of genome pipeline algorithms, achieving quicker turnaround times without compromising accuracy. Ultra-Rapid FPGAs implement algorithms as logic circuits, providing an output almost instantaneously. As a result, DRAGEN can process an entire human genome at 30x coverage in about 20 minutes, as compared to over 20 hours using a traditional CPU-based system. Highly Accurate DRAGEN is engineered to remove biases and other sources of error, ensuring that accuracy is maintained across the board. DRAGEN s suite of pipelines contain checks and balances to ensure reliable results, including GC bias corrections. DRAGEN received the highest score in five of six accuracy metrics in the most recent PrecisionFDA variant calling challenge. Hybrid Cloud Solution DRAGEN onsite and cloud offerings enable customers to use DRAGEN on their preferred platform. Customers can select DRAGEN onsite or in the cloud through our industry-leading partnerships, or use a hybrid of both to securely transfer data analysis and storage between their physical and cloud-based DRAGEN systems. Cost Savings One DRAGEN instance can replace up to 80 traditional compute instances, reducing onsite investments. With G3 compression (see page 7), DRAGEN offers further cost savings by compressing customer data to reduce data storage costs. TM Guinness World Records Holders for Fastest Genetic Diagnosis and Fastest Analysis of 1,000 Human Genomes Fastest Genetic Diagnosis in 26 hours Fastest Analysis of 1,000 Human Genomes in 2:25 hours Applications NICU Diagnostics Clinical Genomics Sequencing Centers Agri Genomics NIPT NIPS Population Sequencing

3 The DRAGEN Platform DRAGEN leverages FPGA technology to provide customers with hardware-accelerated implementation of genome pipeline algorithms onsite and in the cloud. API CLI GUI Compression FPGA-Based DRAGEN Engine The DRAGEN Engine solves two key unmet needs in big data genomics: compute and storage. DRAGEN offers a scalable, accelerated, and cost-efficient secondary analysis solution for all key genomics applications, as well as providing a highly optimized mechanism for the efficient storage of genomic data. The core FPGA technology enables the ultra-rapid compute and optimized storage that the DRAGEN platform provides. As FPGAs are highly reconfigurable, DRAGEN can be reprogrammed as frequently as needed, seamlessly switching or updating algorithms on the fly. This flexibility allows Edico Genome to continuously improve its DRAGEN platform, releasing customer downloads on a regular basis. Powered by Amazon F1 Instances DRAGEN in the cloud is enabled by Amazon Elastic Compute Cloud (Amazon EC2) F1 instance types. Powered by Xilinx Virtex UltraScale + FPGAs, F1 instances are designed to provide capabilities for hardware-accelerated big data applications such as NGS analysis. With the integration of Edico Genome s FPGA-backed DRAGEN Bio-IT platform on Amazon EC2 F1 instances, the accuracy, speed, flexibility, and low cost of DRAGEN can now be accessed through a number of cloud-based platforms.

4 DRAGEN Onsite and Cloud Solutions DRAGEN onsite and cloud offerings enable customers to utilize DRAGEN s ultra-rapid speeds, accuracy, and cost savings through the platform of their choosing. Customers can select between DRAGEN onsite or in the cloud through our industry-leading partnerships, or choose a hybrid of both, allowing them to securely transfer data analysis and storage between their physical and cloud-based DRAGEN systems. Ultra-Rapid NGS Compute 100x faster WGS 30x in ~20 minutes* Accurate Clinical-grade sensitivity and specificity Low Cost Replace up to 80 compute instances Storage Lossless near real-time compression Flexible Onsite, in the cloud or both through hybrid cloud Onsite Hybrid Cloud Solution In the Cloud *Speeds based on DRAGEN onsite Dell EMC server and in the Cloud on an AWS F1 16x large instance Onsite DRAGEN onsite can replace 100 traditional compute instances, reducing hardware and maintenance costs. Utilizing proprietary technology, DRAGEN conducts secondary analysis in a fraction of the time while still maintaining high accuracy. The onsite DRAGEN platform allows customers to analyze and store their data locally. When integrated with DRAGEN s cloud offerings, customers can utilize the DRAGEN hybrid cloud solution to scale up to the cloud during high capacity and return onsite when demand drops. In the Cloud DRAGEN in the cloud enables customers to utilize the same enhanced speed, accuracy, and cost savings that DRAGEN onsite provides, but with the flexibility and scalability of the AWS cloud. Through industry-leading partnerships with Illumina s BaseSpace Sequence Hub, DNAnexus, AWS Marketplace, and Seven Bridges Genomics, customers can run DRAGEN on their preferred platform whenever needed. DRAGEN on the cloud is enabled by Amazon s FPGA instances (EC2 F1), and leverages the storage features of Amazon s S3 for secure storage of large amounts of data in the cloud.

5 DRAGEN in the Cloud DRAGEN in the cloud enables customers to utilize the same enhanced speed, accuracy and cost savings that onsite provides, but with the flexibility and scalability of the AWS cloud. Through industry-leading partnerships, customers can run DRAGEN on their preferred platform whenever needed. DRAGEN on the cloud is enabled by Amazon Elastic Compute Cloud (Amazon EC2) F1 instance type, and leverages the storage features of Amazon s S3 for secure storage of large amounts of data in the cloud. AWS Marketplace is an online platform where customers can sell or buy software that runs on Amazon Web Services (AWS). AWS allows customers to simplify and securely scale genomic analysis, building a bridge from their existing on-premise infrastructure to the cloud. Combined with the power of DRAGEN, the AWS Marketplace enables customers to accelerate their secondary analysis of next-generation sequencing (NGS) data. BaseSpace Sequence Hub is Illumina's cloud-based genomics computing environment for next-generation sequencing (NGS) data management and analysis. Sequencing labs can store and share sequencing data, and researchers can simplify and accelerate NGS data analysis with push-button tools. BaseSpace Sequence Hub coupled with DRAGEN allows for the transition from sequencing to analysis with efficiency and ease, and is compatible with other BaseSpace Sequence Hub applications. DNAnexus provides a global network for sharing and managing genomic data and tools to accelerate genomics. The DNAnexus platform is optimized to address the challenges of security, scalability, and collaboration for organizations that are pursuing translational informatics genomic-based approaches to health, in the clinic and in the research lab. The availability of DRAGEN on DNAnexus enables new and existing DNAnexus customers to reduce turnaround times and costs directly from the online platform. For more information, visit

6 DRAGEN Ultra-Rapid Analysis Pipelines Edico Genome s continuously expanding and improving series of pipelines can be run on a single DRAGEN platform. Germline V2 The DRAGEN Germline V2 Pipeline provides clinical-grade, end-to-end (BCL VCF) NGS analysis, including advanced error model calibration for increased accuracy. Somatic The DRAGEN Somatic Pipeline includes tumor-only and tumor/normal pipelines, designed for use in detecting even rare mutations that may contribute to cancer formation and growth. Transcriptome/RNA Gene Fusion Detection The DRAGEN Transcriptome Pipeline performs transcriptome analysis with splice junction alignment. The pipeline offers multiple operating modes, including reference-only alignment and annotation-assisted. Joint Genotyping/Population Calling The DRAGEN Joint Genotyping Pipeline calls variants from extremely large datasets at a speed 25x faster than competing pipelines with uncompromising accuracy. CNV The DRAGEN Copy Number Variants (CNV) Pipeline performs CNV analysis for germline and somatic exomes and genomes. Various levels of filtering can be applied to mitigate false positives before emitting the final calls. Methylation The DRAGEN M e t hyla t i o n Pipeline offers multiple operating modes, including reference-only alignment and annotation-assisted. VLRD The DRAGEN Virtual Long Read Detection (VLRD) pipeline allows for the detection of variants in segmental duplication regions that are otherwise only detectable by the use of long read sequencing. Map + Align Map + Align The DRAGEN Map + Align pipeline is capable of ultra-rapid mapping and aligning DNA and RNA for both exomes and genomes. GATK BestPractices Pipeline The GATK Best Practices Pipeline is an accelerated implementation of the open-sourced GATK 4.0 Haplotype Variant Caller from the Broad Institute on the DRAGEN platform.

7 DRAGEN G3 Compression Technology Lossless data compression in near-real time Edico Genome s FPGA-based G3 reduces data size by up to 80 percent, significantly reducing customers storage costs. DRAGEN is able to regenerate the original files on the fly with 100% accuracy, enabling a significantly smaller storage footprint and increasing the capacity of existing data storage. G3 compression technology is transparent to the user, who is able to see the attributes of all the original data files, including BAMs, FASTQs, and VCFs, even though some of the data is compressed. Significantly reduces storage costs Seamless compression and storage Available onsite and in the Cloud Hardware accelerated, genomics specific compression Auto compression/decompression via control layer Lossless compression for bit-exact file recovery, or lossy compression for reduced storage footprint DRAGEN Workflow Management System Production-Scale Automation For Complex Genomics Workflows Edico Genome s Workflow Management System (WMS) enables users to easily automate their pipelines and workflows on the DRAGEN Platform. The WMS integrates sequencing instruments, storage resources, compute resources, and workflows with the user s Laboratory Information Management System (LIMS), creating a fully automated, end-to-end process. Users have complete transparency of their samples, lanes, and analyses. The WMS is comprehensive in terms of functional capabilities, and users can effortlessly automate their workflows with data from any number of sequencing instruments (of any type) and any number of samples spread across a vast number of flow cells and lanes.

8 Join the Genomic Revolution DRAGEN provides ultra-rapid secondary analysis in ~20 minutes, enabling customers to focus their time and money on what matters most delivering life-changing answers. DRAGEN is utilized by leading sequencing centers, labs, and hospitals around the world, including About Edico Genome At Edico Genome, we are helping to usher in the new era of personalized medicine by enabling a fundamental shift in healthcare, with customized treatments and data-driven insights tailored to the individual. At the heart of personalized medicine, DNA sequencing technology is advancing at an more rapid rate than cell phone technology. By increasing the speed and accuracy of NGS data analysis, such as whole genome sequencing (WGS) data, our computing platform makes it easier to discover links between DNA sequence variations and diseases. info@edicogenome.com